A genetic mutation in the gene SGMS2 promotes the development of osteoporosis. Osteoporosis is the result of weak bones. Proper calcium intake is likely to ensure the maintenance of bones. Bones cannot maintain their strength without a proper amount of calcium.
Lack of calcium results in osteoporosis.
Researchers from Mäkitie’s research group Metabolic bone diseases carried out this research. The research group is a part of University Hospital Helsinki. The study appears in the journal JCI Insight.
There is a general lack of knowledge in the understanding of the mechanisms that lead to osteoporosis. Genetic disorders with skeletal fragility provide insight into metabolic pathways contributing to bone strength. These gene defects include those that increase the risk of osteoporosis.
Scientists evaluated six families with rare skeletal phenotypes and osteoporosis by next-generation sequencing. In all families, they identified a heterozygous variant in SGMS2. It is a gene prominently expressed in cortical bone and encoding the plasma membrane-resident sphingomyelin synthase SMS2.
What did they find?
Patients with the mutations had a more severe presentation with neonatal fractures. It included symptoms like severe short stature and spondylometaphyseal dysplasia. These are serious neurological and physical complications. Several subjects had experienced peripheral facial nerve palsy or other neurological manifestations. Bone biopsies showed significantly altered bone material characteristics including defective bone mineralization. This resulted in osteoporosis. Osteoclast formation and function in vitro was normal.
There is a specific gene SGM2 responsible for proper bone metabolism
The SG2M gene is responsible for a bone enzyme. This bone enzyme regulates bone function. If the enzyme is not present, bone cannot form properly. This happens as a result of a genetically mutated gene. The deficiency of this enzyme can cause serious complications. There is a change in the microstructure of bone.
What do the findings suggest?
The study can help us understand osteoporosis mechanism. This mechanism can aid us in developing drugs for osteoporosis. This will help us eradicating one of the most challenging mineral diseases.
Children who have this kind of osteoporosis fall prey to fractures.
They all have a mutation in their S2GM gene. This leads to a weakened bone structure. Children get fractures, especially in limbs and spine. These fractures occur as a result of minor injuries. Consequently, this kind of osteoporosis is also linked to neurological symptoms.
These symptoms include paralysis of the face. It occurs because of the enzyme deficiency. The enzyme is not present because of a mutation in the gene. So the facial nerve gets paralyzed. It is one of the common symptoms of osteoporosis.
These gene defects include those that increase the risk of osteoporosis. The New Children’s Hospital of the Helsinki University Hospital (HUS) and the Folkhälsan Research Centre is investigating the causes of childhood-onset osteoporosis.